Abstract
BackgroundRecent studies have suggested a possible association between heparin treatment at the time of cell-free DNA (cfDNA) testing and a non-reportable result. However, these studies lack of proper methodology and had a low level of proof to firmly incriminate heparin. Our objective was to investigate further the relationship between heparin treatment and cfDNA test results.MethodsTwo complementary approaches were used for the demonstration. First, we conducted a retrospective analysis of a cohort of patients with a singleton pregnancy, screened for aneuploidies by using cfDNA, but with a non-reportable cfDNA result. We included patients between 2013 and 2016 including the patients from the DEPOSA study as controls. CfDNA testing was performed by massive parallel sequencing by using a whole-genome approach. A multiple logistic regression was used to account for the influence of the variables included. Second, we performed in vitro experiments on mimic samples containing increased concentrations of heparin.ResultsOf 9867 singleton pregnancies tested during the inclusion period, 58 (0.59%) had a non-reportable result and were compared to 295 control patients. Fifteen (25.9%) and 20 (6.8%) patients were treated with heparin in the group with a non-reportable cfDNA result and with a successful assay, respectively. In multivariable analysis, an increased calculated risk at the first-trimester combined screening (OR 28.8 CI 9.76–85.15, p < 0.001), maternal weight (OR 1.03, CI 1.01–1.06, p = 0.01), and the presence of an autoimmune disease (OR 10.38, CI 1.62–66.53, p = 0.01) were the only characteristics associated with a non-reportable result. In vitro experiments showed that heparin had no impact on fetal fraction measurement or the final result, no matter what the dose tested.ConclusionsTreatment by heparin had no impact on cfDNA screening test for aneuploidies, while the presence of an autoimmune disorder is an independent predictor of a non-reportable result.
Highlights
Recent studies have suggested a possible association between heparin treatment at the time of cellfree DNA testing and a non-reportable result
Since Lo et al first demonstrated the presence of fetal DNA sequences in maternal plasma and serum [1], many improvements have been made to clinical application of this tool
The most common reason for non-reportable results is a fetal fraction below 4%, which is the usual cut-off for decision making [8,9,10]
Summary
Recent studies have suggested a possible association between heparin treatment at the time of cellfree DNA (cfDNA) testing and a non-reportable result. These studies lack of proper methodology and had a low level of proof to firmly incriminate heparin. The most common reason for non-reportable results is a fetal fraction below 4%, which is the usual cut-off for decision making [8,9,10]. Such results delay both decisionmaking and invasive procedures. With few patients included and no proper design, those studies could neither confirm nor reject this hypothesis
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